CDKL5 Proband Entry



Entry ID: cp331

Systematic name: c.99+5G>A

Protein name: p.Ala23Asnfs*3

Alternate name(s): intronic variation (r.65_99del, exon 3 skipping)

Mutation type: splicing variant

Domain: ATP binding region

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - early-onset epilepsy with severe intellectual disability

Other mutation:

X-inactivation results: No

Chromosomal abnormality: No

Method of testing: not specified, MECP2 negative

Source of DNA: not certain

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Stalpers, X., Spruijt, L., Yntema, H.G., Verrips, A. (2012) Clinical phenotype of 5 females with a CDKL5 mutation. Journal of Child Neurology 27:90-93. Pubmed ID: 21765152

Publication ID: 2

Comments:

Entry last updated on: 2014-03-13 06:14:38

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.[=/99+5G>A] p.[=/Ala23Asnfs*3] Not Rett syndrome - encephalopathy and early-onset seizures Male 20602487 Masliah-Plachon et al (2010) cp140

Displaying a total number of 1 proband entries.